Mutagenetix > Incidental Mutation

Incidental Mutation 'R2131:Eya1'

228002

Institutional Source

Beutler Lab

Gene Symbol

Eya1

Ensembl Gene

ENSMUSG00000025932

Gene Name

EYA transcriptional coactivator and phosphatase 1

Synonyms

bor

MMRRC Submission

040134-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.847) question?

Stock #

R2131 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14239178-14380459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14241198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 573 (V573A)

Ref Sequence

ENSEMBL: ENSMUSP00000141112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027066] [ENSMUST00000080664] [ENSMUST00000168081] [ENSMUST00000190337]

AlphaFold

P97767

Predicted Effect

probably benign
Transcript: ENSMUST00000027066
AA Change: V573A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027066
Gene: ENSMUSG00000025932
AA Change: V573A

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	56	75	N/A	INTRINSIC
low complexity region	240	252	N/A	INTRINSIC
low complexity region	295	319	N/A	INTRINSIC
PDB:3HB1\|D	320	591	1e-172	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000080664
AA Change: V540A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000079493
Gene: ENSMUSG00000025932
AA Change: V540A

Domain	Start	End	E-Value	Type
low complexity region	22	41	N/A	INTRINSIC
low complexity region	201	213	N/A	INTRINSIC
low complexity region	256	280	N/A	INTRINSIC
PDB:3HB1\|D	281	552	1e-173	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000168081
AA Change: V569A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000126383
Gene: ENSMUSG00000025932
AA Change: V569A

Domain	Start	End	E-Value	Type
low complexity region	23	42	N/A	INTRINSIC
low complexity region	207	219	N/A	INTRINSIC
low complexity region	262	286	N/A	INTRINSIC
PDB:3HB1\|D	287	558	1e-172	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000190337
AA Change: V573A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141112
Gene: ENSMUSG00000025932
AA Change: V573A

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	56	75	N/A	INTRINSIC
low complexity region	240	252	N/A	INTRINSIC
low complexity region	295	319	N/A	INTRINSIC
PDB:3HB1\|D	320	591	1e-172	PDB

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Acvr2b	A	G	9: 119,261,874 (GRCm39)	R437G	probably damaging	Het
Adamtsl3	C	A	7: 82,227,802 (GRCm39)	A1329E	probably damaging	Het
Adgrl2	T	C	3: 148,596,124 (GRCm39)	I71V	probably damaging	Het
Adra1a	A	T	14: 66,964,981 (GRCm39)	I324F	possibly damaging	Het
Akap13	G	T	7: 75,261,182 (GRCm39)	A1269S	probably benign	Het
Ampd1	G	T	3: 103,002,194 (GRCm39)		probably null	Het
Ankrd16	T	A	2: 11,788,506 (GRCm39)	D211E	probably damaging	Het
Aopep	T	A	13: 63,357,963 (GRCm39)	C656S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Apc	C	A	18: 34,445,098 (GRCm39)	Q665K	possibly damaging	Het
Arap2	T	C	5: 62,835,301 (GRCm39)	N747S	probably damaging	Het
Arsk	A	T	13: 76,239,931 (GRCm39)	C47*	probably null	Het
Atp8b5	T	A	4: 43,370,726 (GRCm39)	F1001I	probably benign	Het
Bap1	T	A	14: 30,980,288 (GRCm39)	Y645*	probably null	Het
Brca2	A	G	5: 150,480,594 (GRCm39)	Y2760C	probably damaging	Het
Cad	T	A	5: 31,215,416 (GRCm39)	F76I	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccdc27	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTC	4: 154,120,763 (GRCm39)		probably benign	Het
Cdkn2c	A	C	4: 109,522,260 (GRCm39)	N28K	probably null	Het
Celsr1	T	A	15: 85,847,424 (GRCm39)	I1438F	probably benign	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Cldn1	G	C	16: 26,190,300 (GRCm39)	A26G	probably damaging	Het
Col20a1	T	A	2: 180,634,366 (GRCm39)	F110L	probably damaging	Het
Creg2	T	C	1: 39,664,146 (GRCm39)	N204S	probably benign	Het
Cx3cl1	C	A	8: 95,506,201 (GRCm39)	Q69K	probably benign	Het
Cyfip2	T	C	11: 46,176,958 (GRCm39)	E74G	possibly damaging	Het
Cyp2g1	A	T	7: 26,520,135 (GRCm39)	I456F	probably damaging	Het
Dapk1	A	G	13: 60,877,345 (GRCm39)	E528G	possibly damaging	Het
Dapk1	T	A	13: 60,909,481 (GRCm39)	W1365R	possibly damaging	Het
Dbt	T	A	3: 116,332,773 (GRCm39)	D16E	probably damaging	Het
Depdc5	T	A	5: 33,148,125 (GRCm39)	L1469*	probably null	Het
Dnah3	T	A	7: 119,566,982 (GRCm39)	T2415S	possibly damaging	Het
Dnmbp	A	G	19: 43,842,750 (GRCm39)	L1210S	probably damaging	Het
Dpyd	T	C	3: 118,468,217 (GRCm39)	V77A	probably benign	Het
Eps15l1	A	T	8: 73,140,712 (GRCm39)	V260D	probably benign	Het
Fam171b	T	A	2: 83,710,202 (GRCm39)	S625T	probably damaging	Het
Fam186a	T	C	15: 99,831,557 (GRCm39)		probably benign	Het
Gabra4	G	T	5: 71,798,567 (GRCm39)	D137E	probably benign	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Gm43302	T	C	5: 105,422,610 (GRCm39)	D474G	probably damaging	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Gpr19	T	C	6: 134,847,405 (GRCm39)	M1V	probably null	Het
Hnf4a	T	A	2: 163,389,338 (GRCm39)	N29K	probably benign	Het
Htt	A	G	5: 35,034,453 (GRCm39)	R1975G	possibly damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Il4i1	G	A	7: 44,489,494 (GRCm39)	V420M	probably damaging	Het
Insrr	G	A	3: 87,717,879 (GRCm39)		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Jmjd4	A	T	11: 59,345,781 (GRCm39)	H287L	probably damaging	Het
Kcnj13	A	G	1: 87,314,256 (GRCm39)	V322A	probably benign	Het
Kdm5d	T	C	Y: 941,483 (GRCm39)	L1228P	probably benign	Het
Klra3	A	G	6: 130,312,738 (GRCm39)	S9P	probably benign	Het
Ldhd	C	T	8: 112,355,169 (GRCm39)		probably null	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lmo7	A	T	14: 102,137,674 (GRCm39)	D670V	probably damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Lrp5	T	C	19: 3,672,708 (GRCm39)	T534A	possibly damaging	Het
Lrrc24	A	T	15: 76,599,781 (GRCm39)	F453I	possibly damaging	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Mcpt8	T	C	14: 56,319,740 (GRCm39)	I237V	probably damaging	Het
Med4	A	G	14: 73,755,436 (GRCm39)	N248S	possibly damaging	Het
Mest	C	T	6: 30,745,884 (GRCm39)	L269F	probably damaging	Het
Mib2	C	T	4: 155,739,695 (GRCm39)		probably null	Het
Mki67	T	A	7: 135,305,970 (GRCm39)		probably null	Het
Mnx1	T	A	5: 29,679,187 (GRCm39)	S299C	unknown	Het
Nbr1	T	A	11: 101,457,017 (GRCm39)		probably null	Het
Ncapd3	T	G	9: 26,994,642 (GRCm39)	V1174G	probably damaging	Het
Nyap1	A	C	5: 137,731,943 (GRCm39)		probably null	Het
Olfml3	T	A	3: 103,643,185 (GRCm39)	M399L	probably benign	Het
Oosp1	T	C	19: 11,668,314 (GRCm39)	D23G	probably damaging	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or6c205	T	C	10: 129,086,943 (GRCm39)	F180S	probably benign	Het
Osbpl6	T	A	2: 76,416,558 (GRCm39)	I546K	probably damaging	Het
Otog	A	T	7: 45,899,524 (GRCm39)	N275I	probably damaging	Het
Pcdhb14	C	A	18: 37,580,923 (GRCm39)	Q10K	probably benign	Het
Pcx	T	C	19: 4,652,579 (GRCm39)	F189L	probably benign	Het
Pde6b	A	G	5: 108,576,069 (GRCm39)	D718G	probably damaging	Het
Pklr	C	A	3: 89,049,967 (GRCm39)	P314Q	probably damaging	Het
Plcb1	T	A	2: 135,167,587 (GRCm39)	Y460*	probably null	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Plekho1	A	G	3: 95,896,429 (GRCm39)	S347P	probably damaging	Het
Plxna2	G	A	1: 194,327,058 (GRCm39)	D331N	probably benign	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Prkra	A	T	2: 76,477,480 (GRCm39)	I75K	probably damaging	Het
Ptpn11	G	A	5: 121,310,089 (GRCm39)	A31V	probably damaging	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Rbm12	A	T	2: 155,937,430 (GRCm39)	C947*	probably null	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Sarm1	A	T	11: 78,366,133 (GRCm39)	C649S	probably benign	Het
Septin12	T	A	16: 4,809,643 (GRCm39)	Q223L	probably damaging	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Slc22a21	A	T	11: 53,870,559 (GRCm39)	L42Q	probably damaging	Het
Slc44a1	GCCC	GCCCCCCC	4: 53,563,246 (GRCm39)		probably null	Het
Slc9a4	T	G	1: 40,646,901 (GRCm39)		probably null	Het
Sort1	T	A	3: 108,259,002 (GRCm39)	F678Y	probably benign	Het
Spag6	T	A	2: 18,737,908 (GRCm39)	C259*	probably null	Het
Spata31e2	T	C	1: 26,724,935 (GRCm39)	R82G	probably benign	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Stk24	A	T	14: 121,539,623 (GRCm39)	I191N	probably damaging	Het
Tacc1	A	T	8: 25,654,509 (GRCm39)	N271K	probably damaging	Het
Tacc2	T	A	7: 130,223,587 (GRCm39)	S91T	possibly damaging	Het
Tacr3	T	C	3: 134,637,941 (GRCm39)	V366A	probably benign	Het
Tasor	A	G	14: 27,198,571 (GRCm39)	N1301S	possibly damaging	Het
Tbccd1	A	G	16: 22,660,739 (GRCm39)	S26P	probably benign	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tor1aip2	A	G	1: 155,941,095 (GRCm39)	Y467C	probably damaging	Het
Ttc9b	T	A	7: 27,353,774 (GRCm39)		probably null	Het
Tti1	T	C	2: 157,842,663 (GRCm39)	R789G	probably benign	Het
Ttn	A	T	2: 76,662,561 (GRCm39)		probably null	Het
Txk	T	A	5: 72,853,922 (GRCm39)	T472S	probably damaging	Het
Ube3d	A	T	9: 86,254,540 (GRCm39)		probably null	Het
Vav2	C	A	2: 27,189,408 (GRCm39)	R176L	possibly damaging	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Wdr27	T	A	17: 15,148,594 (GRCm39)	D133V	probably damaging	Het
Zc3h7a	A	T	16: 10,968,469 (GRCm39)	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,474,392 (GRCm39)	L548Q	possibly damaging	Het
Zfp467	A	C	6: 48,419,595 (GRCm39)	S38A	probably damaging	Het

Other mutations in Eya1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Eya1	APN	1	14,340,925 (GRCm39)	splice site	probably benign
IGL01110:Eya1	APN	1	14,353,354 (GRCm39)	missense	probably damaging	1.00
IGL02266:Eya1	APN	1	14,254,725 (GRCm39)	missense	possibly damaging	0.63
IGL03027:Eya1	APN	1	14,241,190 (GRCm39)	missense	probably damaging	1.00
IGL03081:Eya1	APN	1	14,253,415 (GRCm39)	missense	possibly damaging	0.76
IGL03291:Eya1	APN	1	14,254,572 (GRCm39)	critical splice donor site	probably null
IGL03353:Eya1	APN	1	14,249,751 (GRCm39)	missense	probably damaging	1.00
R0042:Eya1	UTSW	1	14,254,713 (GRCm39)	missense	probably damaging	0.98
R0042:Eya1	UTSW	1	14,254,713 (GRCm39)	missense	probably damaging	0.98
R1428:Eya1	UTSW	1	14,374,638 (GRCm39)	splice site	probably benign
R1521:Eya1	UTSW	1	14,344,774 (GRCm39)	missense	probably damaging	0.99
R1571:Eya1	UTSW	1	14,279,141 (GRCm39)	missense	probably damaging	1.00
R1768:Eya1	UTSW	1	14,323,299 (GRCm39)	missense	possibly damaging	0.95
R1785:Eya1	UTSW	1	14,241,198 (GRCm39)	missense	probably benign	0.16
R1840:Eya1	UTSW	1	14,299,728 (GRCm39)	nonsense	probably null
R2114:Eya1	UTSW	1	14,340,998 (GRCm39)	missense	probably damaging	1.00
R2212:Eya1	UTSW	1	14,344,433 (GRCm39)	critical splice acceptor site	probably null
R2416:Eya1	UTSW	1	14,340,927 (GRCm39)	critical splice donor site	probably null
R2424:Eya1	UTSW	1	14,341,072 (GRCm39)	splice site	probably benign
R3085:Eya1	UTSW	1	14,344,314 (GRCm39)	missense	probably benign	0.01
R3158:Eya1	UTSW	1	14,374,691 (GRCm39)	start gained	probably benign
R3412:Eya1	UTSW	1	14,344,433 (GRCm39)	critical splice acceptor site	probably null
R3413:Eya1	UTSW	1	14,344,433 (GRCm39)	critical splice acceptor site	probably null
R3693:Eya1	UTSW	1	14,299,725 (GRCm39)	missense	probably damaging	1.00
R3694:Eya1	UTSW	1	14,299,725 (GRCm39)	missense	probably damaging	1.00
R3899:Eya1	UTSW	1	14,340,971 (GRCm39)	missense	probably benign	0.04
R4454:Eya1	UTSW	1	14,253,420 (GRCm39)	missense	probably damaging	0.98
R4455:Eya1	UTSW	1	14,253,420 (GRCm39)	missense	probably damaging	0.98
R4456:Eya1	UTSW	1	14,253,420 (GRCm39)	missense	probably damaging	0.98
R4458:Eya1	UTSW	1	14,253,420 (GRCm39)	missense	probably damaging	0.98
R4761:Eya1	UTSW	1	14,373,045 (GRCm39)	missense	probably damaging	1.00
R5011:Eya1	UTSW	1	14,254,582 (GRCm39)	missense	probably damaging	1.00
R5013:Eya1	UTSW	1	14,254,582 (GRCm39)	missense	probably damaging	1.00
R5613:Eya1	UTSW	1	14,373,153 (GRCm39)	intron	probably benign
R5687:Eya1	UTSW	1	14,253,476 (GRCm39)	missense	probably damaging	0.99
R6052:Eya1	UTSW	1	14,353,374 (GRCm39)	missense	probably damaging	1.00
R6181:Eya1	UTSW	1	14,373,096 (GRCm39)	missense	probably damaging	0.99
R6378:Eya1	UTSW	1	14,373,027 (GRCm39)	missense	possibly damaging	0.93
R6805:Eya1	UTSW	1	14,253,501 (GRCm39)	missense	probably benign	0.00
R6863:Eya1	UTSW	1	14,341,199 (GRCm39)	splice site	probably null
R7032:Eya1	UTSW	1	14,353,424 (GRCm39)	critical splice acceptor site	probably null
R7044:Eya1	UTSW	1	14,301,634 (GRCm39)	splice site	probably null
R7078:Eya1	UTSW	1	14,301,636 (GRCm39)	critical splice donor site	probably null
R7179:Eya1	UTSW	1	14,373,076 (GRCm39)	missense	probably damaging	1.00
R7384:Eya1	UTSW	1	14,299,736 (GRCm39)	missense	probably damaging	1.00
R7462:Eya1	UTSW	1	14,301,638 (GRCm39)	missense	probably null	0.99
R8490:Eya1	UTSW	1	14,254,899 (GRCm39)	missense	possibly damaging	0.90
R8527:Eya1	UTSW	1	14,322,672 (GRCm39)	missense	probably damaging	1.00
R8724:Eya1	UTSW	1	14,279,206 (GRCm39)	missense	probably benign	0.01
R9462:Eya1	UTSW	1	14,299,775 (GRCm39)	missense	probably damaging	1.00
R9608:Eya1	UTSW	1	14,373,029 (GRCm39)	missense	probably benign	0.10
Z1176:Eya1	UTSW	1	14,373,092 (GRCm39)	missense	probably damaging	1.00
Z1176:Eya1	UTSW	1	14,322,654 (GRCm39)	missense	probably benign
Z1177:Eya1	UTSW	1	14,323,314 (GRCm39)	missense	possibly damaging	0.68
Z1177:Eya1	UTSW	1	14,254,653 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCTGAAGAATACACATGGTCCTCC -3'
(R):5'- AGAGAAATGGCACTCCCCTC -3'

Sequencing Primer
(F):5'- GTCCTCCATTAACCCCGAGG -3'
(R):5'- CCTCACACAGTATTTCTTGGAGGGAG -3'

Posted On

2014-09-17